Amyloidosis: a strong need for clinical diagnosis in India

Rationale: Senile systemic amyloidosis, a disease of elderly is caused by amyloid deposition of wild-type transthyretin. The symptoms often overlap with other heart diseases. Hence it is either misdiagnosed or considered as a normal aging process in majority of cases. Patient concerns: We present a young patient of wild-type transthyretin amyloidosis, contradicting its only senile presence. The 34-year-old man presented with dyspnoea on exertion. He was suffering from hypertension for consecutive 3 years. Diagnosis: Echocardiography demonstrated left ventricular hypertrophy with reduced global longitudinal strain and apical sparing. Congo red staining and immuno-histochemical staining of the abdominal fat biopsy confirmed transthyretin amyloid deposition. Genetic analysis revealed absence of any mutant variant/s of transthyretin gene, confirming wild-type transthyretin amyloidosis. Intervention: A combination of amlodipine 5 mg, telmisartan 40 mg, and chlorthalidone 12.5 mg once daily was given to control the blood pressure of the patient. Outcome: Blood pressure was controlled but he continued to have exertional dyspnoea. The patient expired in December 2019. Lessons: A systematic diagnosis for wild type transthyretin amyloid cardiomyopathy (ATTR-CM) shall be considered in young cardiac patients suffering from cardiac distress with unknown etiology.

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Amyloidosis: a strong need for clinical diagnosis in India

Cited by 2 publications

References 5 publications

The worldwide need for amyloid diagnosis in animals

The worldwide need for amyloid diagnosis in animals

Wild type transthyretin cardiac amyloidosis in a young individual

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